Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Sarah Harkins-Perry"'
Autor:
Jessica D. Rosarda, Sarah Giles, Sarah Harkins-Perry, Elizabeth A. Mills, Martin Friedlander, R. Luke Wiseman, Kevin T. Eade
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)
Abstract The accumulation of atypical, cytotoxic 1-deoxysphingolipids (1-dSLs) has been linked to retinal diseases such as diabetic retinopathy and Macular Telangiectasia Type 2. However, the molecular mechanisms by which 1-dSLs induce toxicity in re
Externí odkaz:
https://doaj.org/article/66ae003ca45c4b5cb11a67b2487be644
Autor:
Kevin T. Eade, Brendan Robert E. Ansell, Sarah Giles, Regis Fallon, Sarah Harkins-Perry, Takayuki Nagasaki, Simone Tzaridis, Martina Wallace, Elizabeth A. Mills, Samaneh Farashi, Alec Johnson, Lydia Sauer, Barbara Hart, M. Elena Diaz-Rubio, Melanie Bahlo, Christian Metallo, Rando Allikmets, Marin L. Gantner, Paul S. Bernstein, Martin Friedlander
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 9 (2023)
Patient-derived induced pluripotent stem cells (iPSCs) provide a powerful tool for identifying cellular and molecular mechanisms of disease. Macular telangiectasia type 2 (MacTel) is a rare, late-onset degenerative retinal disease with an extremely h
Externí odkaz:
https://doaj.org/article/c36953378fea49618ef3b23be50c87cb
Autor:
Christopher L Cunningham, Zizhen Wu, Aria Jafari, Bo Zhao, Kat Schrode, Sarah Harkins-Perry, Amanda Lauer, Ulrich Müller
Publikováno v:
eLife, Vol 6 (2017)
Externí odkaz:
https://doaj.org/article/b6dc259e98144ab4a540af6fd3949f49
Autor:
Christopher L Cunningham, Zizhen Wu, Aria Jafari, Bo Zhao, Kat Schrode, Sarah Harkins-Perry, Amanda Lauer, Ulrich Müller
Publikováno v:
eLife, Vol 6 (2017)
Hair cells of the cochlea are mechanosensors for the perception of sound. Mutations in the LRTOMT gene, which encodes a protein with homology to the catecholamine methyltransferase COMT that is linked to schizophrenia, cause deafness. Here, we show t
Externí odkaz:
https://doaj.org/article/afc8afa0a2de4e06b02296712830809f
Autor:
Jessica D. Rosarda, Sarah Giles, Sarah Harkins-Perry, Elizabeth A Mills, Martin Friedlander, R. Luke Wiseman, Kevin T. Eade
SUMMARY1-Deoxysphingolipids (1-dSLs) are atypical cytotoxic sphingolipids formed through the substitution of alanine for serine in de novo sphingolipid biosynthesis. Accumulation of 1-dSLs has been linked to diseases of the eye such as diabetic retin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b1a0f3f448a9546d6a44fe2fa3306c22
https://doi.org/10.1101/2022.09.22.509071
https://doi.org/10.1101/2022.09.22.509071
Autor:
Pin Lyu, Sarah Giles, Eric D. Thomas, Melanie Bahlo, Martin Friedlander, Andrew E. Timms, Thanh Hoang, Jiang Qian, Seth Blackshaw, Sarah Harkins-Perry, Victoria E. Jackson, Timothy J. Cherry, Kevin Eade
SUMMARYCis-regulatory elements (CREs) play a critical role in the development, maintenance, and disease-states of all human cell types. In the human retina, CREs have been implicated in a variety of inherited retinal disorders. To characterize cell-c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0f222aafd0a00ed090f8e803fba28fe7
https://doi.org/10.1101/2021.07.31.454254
https://doi.org/10.1101/2021.07.31.454254
Publikováno v:
Journal of Visualized Experiments.
Organoids provide a promising platform to study disease mechanism and treatments, directly in the context of human tissue with the versatility and throughput of cell culture. Mature human retinal organoids are utilized to screen potential pharmaceuti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25261950c8fb3c1f5b8eb18daf716034
https://doi.org/10.3791/62269
https://doi.org/10.3791/62269
Autor:
Eric D. Thomas, Andrew E. Timms, Sarah Giles, Sarah Harkins-Perry, Pin Lyu, Thanh Hoang, Jiang Qian, Victoria E. Jackson, Melanie Bahlo, Seth Blackshaw, Martin Friedlander, Kevin Eade, Timothy J. Cherry
Publikováno v:
Dev Cell
Cis-regulatory elements (CREs) play a critical role in the development and disease-states of all human cell types. In the retina, CREs have been implicated in several inherited disorders. To better characterize human retinal CREs, we performed single
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be7b7a84f0c0e302f7eadc5f9fdf8612
https://doi.org/10.1016/j.devcel.2022.02.018
https://doi.org/10.1016/j.devcel.2022.02.018
Autor:
Esther W. Lim, Kevin Eade, Michael I. Dorrell, Rebecca B. Berlow, Rando Allikmets, Sarah Giles, Regis Fallon, Joseph A. Hostyk, Sarah Harkins-Perry, Michelle Baldini, Martina Wallace, Lea Scheppke, Marin L. Gantner, Christian M. Metallo, Martin Friedlander, Carolyn Cai, Evan H. Baugh, David Goldstein, Charles J. Wolock, Takayuki Nagasaki
Publikováno v:
Nat Metab
Macular telangiectasia type 2 (MacTel) is a progressive, late-onset retinal degenerative disease linked to decreased serum levels of serine that elevate circulating levels of a toxic ceramide species, deoxysphingolipids (deoxySLs); however, causal ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9af9674620f3aad2e77545c8fc241f3a
https://pubmed.ncbi.nlm.nih.gov/33758422
https://pubmed.ncbi.nlm.nih.gov/33758422
Autor:
Tjebo F. C. Heeren, Roberto Bonelli, Maki Kitano, Yoichiro Ideguchi, Regis Fallon, Rando Allikmets, Michael I. Dorrell, Jennifer K Trombley, Lydia Sauer, Mali Okada, Sarah Giles, Robyn H. Guymer, Marin L. Gantner, Barbara Hart, Marcus Fruttiger, Florian Eichler, Kevin Eade, Michal K. Handzlik, Sarah Harkins-Perry, Lea Scheppke, Mehmet G. Badur, Takayuki Nagasaki, Melanie Bahlo, Michelle Baldini, Sasha Woods, Mark C Gillies, Martina Wallace, Carolyn Cai, Paul S. Bernstein, Christian M. Metallo, Martin Friedlander, Catherine A Egan
Publikováno v:
The New England journal of medicine. 381(15)
Identifying mechanisms of diseases with complex inheritance patterns, such as macular telangiectasia type 2, is challenging. A link between macular telangiectasia type 2 and altered serine metabolism has been established previously.Through exome sequ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51180c3bfb1667877c55183392dc77a3
https://pubmed.ncbi.nlm.nih.gov/31509668
https://pubmed.ncbi.nlm.nih.gov/31509668